[Congenital hypopituitarism: report of 23 cases].
BACKGROUND
Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency It is less common than growth hormone deficiency which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of this condition is important to prevent impairment of cognitive function, poor growth and alterations in metabolic profile in these patients.


OBJECTIVE
To report 23 patients diagnosed with congenital hypopituitarism.


METHODS
Retrospective review of clinical records of 23 patients (12 males) with congenital hypopituitarism, diagnosed during a 21 years period. In a group of 16 patients a molecular study was performed searching for mutations in HESX1, PROP-1 or POUF-1.


RESULTS
Short stature was the most frequent sign at the first evaluation, followed by neonatal hypoglycemia and presence of nystagmus, strabismus, atrophic optic nerve or malformations in the middle line showed in CNS imaging, suggesting septo-optic-dysplasia. All male patients diagnosed during neonatal period, exhibited micropenis. CNS images showed isolated hypophyseal hypoplasia or associated to an ectopic neurohypophysis in most patients. No patient in the subgroup subjected to molecular analysis had any of the mutations in the searched genes.


CONCLUSIONS
The diagnosis of hypopituitarism must be based on clinical grounds, especially when hypoglycemia, prolonged jaundice, micropenis or midline alterations are found in the neonatal period.
Lammoglia
Juan Javier
JJ
Instituto de Investigaciones Materno Infantil, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Eyzaguirre
Francisca
F
Unanue
Nancy
N
Román
Rossana
R
Codner
Ethel
E
Cassorla
Fernando
F
Mericq
Verónica
V
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007018:Hypopituitarism / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D012189:Retrospective Studies; D050817:Transcription Factor Pit-1 / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
C489736:HESX1 protein, human; D018398:Homeodomain Proteins; C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D014157:Transcription Factors